Persistent Urogenital Sinus: Diagnostic Imaging for Clinical Management. What Does the Radiologist Need to Know?

BACKGROUND: Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina. It may be a part of a complex syndrome and can be more often associated with congenital malformations affecting the genitourinary tract system (33%) such as intersex, rectovaginal communication, bladder agenesis, absence of vagina, and hydrocolpos. The correct radiological assessment of PUGS is especially useful for clinicians since the exact anatomical evaluation of this abnormality is a crucial factor for surgical planning. The imaging study modalities, which are essentially based on ultrasonography, voiding cystourethrography, and magnetic resonance imaging, could be misinterpreted if not correctly performed. AIM: The aim of this article is to highlight this rare pathological condition and to help general radiologists in achieving the correct technical approach for the diagnosis. Special attention will be paid in discussing the role of different imaging modalities and their contribution to the diagnosis and clinical management of patients.

A rare case of renal dysplasia: prenatal and postnatal management.

The ultrasonographic detection of renal anomalies may modify obstetric management and facilitate pediatric care of the newborn. We performed prenatal differential diagnosis of an isolated unilateral cystic renal mass (71 × 74 × 82 mm) in a pregnant woman at 26 weeks of gestation. No other abnormalities were detected by ultrasonography, except for polyhydramnios. Repeated percutaneous cyst aspirations were required because of the increasing risk of vital organ damage. Postnatal nephroureterectomy was performed. Anatomopathologic analysis led to the diagnosis of segmental renal dysplasia, which could not be included in any of the four groups of Potter's classification of cystic renal dysplasia.

Unusual presentation of angiomyomatous hamartoma in an eight-month-old infant: case report and literature review.

BACKGROUND: Evaluation of palpable neck masses may be a diagnostic problem in pediatric patients, with differential diagnosis including congenital, inflammatory, tumoral and traumatic lesions. Ultrasonography is usually a satisfactory method to make a correct pre-operative evaluation of neck masses, although diagnosis is often challenging for the surgeon and the radiologist and sometimes only possible after a histopathological examination of the resected lesion. CASE PRESENTATION: We report an 8-month-old patient with a cervical, anterior midline mass. Ultrasonographic images showed features suggesting a partly cystic lesion, with a preoperative suspect of thyroglossal duct cyst. Histological examination, performed after surgical removal of the mass, led to a diagnosis of lymph node angiomyomatous hamartoma (AH). CONCLUSIONS: AH, a rarely occurring benign lymph node lesion, has been reported in the neck lateral region only twice. This case, presenting as a palpable neck midline mass, is the first reported case occurring in infancy. Although rare, AH should be included in the differential diagnosis of head and neck masses.

An unusual complication of umbilical catheterisation.

We report the first case of perforated Meckel's diverticulum in a 1-day-old pre-term infant as a consequence of umbilical vein catheterisation. The clinical course consisted of abdominal distension and pneumoperitoneum that occurred after 12 h of life. Perforated Meckel's diverticulum was found at laparotomy. Neither inflammatory phenomena nor ectopic mucosa were found at microscopical examination. Perforation of the diverticulum was a complication of umbilical catheter insertion through a narrow lumen in the umbilical cord mistaken for an umbilical vein and connected to Meckel's diverticulum through a very short fibrous band. A search of the literature did not reveal any similar cases.

Hyperechogenic Bowel: Etiologies, Management, and Outcome according to Gestational Age at Diagnosis in 279 Consecutive Cases in a Single Center.

Introduction The aim of the study was to investigate perinatal outcome of fetuses with hyperechogenic bowel (HB) in relation to gestational age at diagnosis. Materials and Methods This is a retrospective observational study of fetal HB cases from 2002 to 2012. Patients were divided into three groups according to trimester at diagnosis. For each group, data from fetal ultrasound examination, fetal medicine investigations, intrapartum cares, and neonatal outcome were obtained. Results A diagnosis of HB was made in 279 fetuses among them 17 (6%) during the first trimester, 186 (67%) during the second trimester, and 75 (27%) during the third trimester. A significant prevalence of maternal comorbidities was noticed in group 1 (12%: p = 0.02). A chromosomal defect was identified in 13% of the fetuses without difference among the three groups. HB was associated with prenatal infection in 11.5% (n = 32) of the cases, with an equal distribution between groups 2 and 3. Intrauterine growth retardation was noticed in 23% (n = 64) of the cases with a slightly high prevalence in groups 1 (35%). HB was the only ultrasonographic intestinal soft marker in 80% (n = 223) of the fetuses, two-third of them were detected during the first and the second trimesters (p = 0.001). However, HB was associated with bowel dilation in 33% of the cases diagnosed during the third trimester (p = 001). Ultrasonographic extraintestinal anomalies were identified in 30% of the fetuses with a higher prevalence in group 1 (59%). HB resolved spontaneously in 55 (19.7%) cases-without difference among the three groups. In group 1 we recorded a significant prevalence of intrauterine demise (23.5%, p = 0.004). Two hundred twenty-seven (81.3%) pregnancies resulted in live-born neonates; among them gastrointestinal anomalies were noticed in 12.5% with a significant prevalence in group 3 (36%) compared with 6 and 5.4% in groups 1 and 2, respectively (p = 0.001). Extraintestinal anomalies were confirmed in 27% of the cases, whereas postnatal mortality rate was of 7% without differences between the three groups. Conclusion Detection of HB during the first trimester is associated with an increased risk for maternal comorbidities, intrauterine growth retardation, and adverse pregnancy outcome. Moreover, if HB is detected during the second trimester, it is associated with a favorable prognosis. Otherwise, HB detected during the third trimester is associated with a significant risk of gastrointestinal anomaly.

Prenatal detection of megacystis: not always an adverse prognostic factor. Experience in 25 consecutive cases in a tertiary referral center, with complete neonatal outcome and follow-up.

INTRODUCTION: Megacystis is a condition of abnormal enlarged fetal bladder for gestational age, which is usually associated with urological malformations that may constitute a life-threatening condition for the baby. OBJECTIVE: The purpose of this study was to assess the prognostic and etiological criteria of fetal megacystis and to describe the neonatal outcome in a large series collected in a single tertiary center. STUDY DESIGN: A retrospective observational study was conducted between 2008 and 2012. We reviewed all consecutive cases of fetal megacystis diagnosed during routine ultrasound (US) screening. The following data were collected and analyzed: maternal age, gestational age at diagnosis, prenatal ultrasonographic details of the urinary system, extra-urinary ultrasonographic anomalies, fetal karyotype, pregnancy outcome, postnatal diagnosis, and medical/surgical follow-up. RESULTS: Of the 25 fetuses included in this study, 76% were males. The mean gestational age (GA) at diagnosis was 23.1 ± 7.5 weeks (range 12-34), among them only four (16%) were diagnosed during the first trimester. Associated urological malformations were detected in 92% (n = 23) of the cases, while other malformations were detected in 36% (n = 9). Oligohydramnios or anyhydramnios were observed in 52% (n = 13) of the cases. Twelve (48%) fetuses were considered as having poor prognosis for renal function. Vesicocentesis with or without vesico-amniotic infusion were performed in 28% (n = 7) of the cases. Pregnancy outcome was surprisingly good, with only one case of prenatal death and survival rate of 96% (n = 24) of liveborn babies. Posterior urethral valve (PUV) (n = 9, 36%) was the most common etiology of the fetal megacystis, followed by persistent urogenital sinus (n = 2, 8%), Prune belly syndrome (n = 2, 8%) and bilateral vescico-ureteral reflux (VUR) (n = 2, 8%). Surgical or endoscopic procedures were performed in 75% (n = 18) of the cases. Six (24%) newborns presented with moderate/severe respiratory distress that requested invasive assisted ventilation. Three cases (n = 3, 12%) of perinatal death were observed due to severe impaired renal function. After a median follow-up of 29 months renal function was good in 79% (n = 19) of the cases. CONCLUSIONS: Fetal megacystis may underline a wide range of associated pathologies with the highest prevalence of urinary malformation. Optimal counseling of the involved parents requires a multidisciplinary approach to allow the best management during the pregnancy and the perinatal period. Despite the high risk of renal failure, lung hypoplasia, and severe associated anomalies, the outcome of fetuses with megacystis could be improved thanks to an appropriate perinatal diagnosis and neonatal management.

Isolated Fetal Ascites, Neonatal Outcome in 51 Cases Observed in a Tertiary Referral Center.

Introduction Prenatal detection of isolated ascites is a rare finding on ultrasound, usually suggestive of an underlying pathology that may negatively impact on the pregnancy and neonatal outcome. The purpose of the present study was to evaluate the outcome of primary isolated ascites in relation to gestational age (GA) at diagnosis. Materials and Methods Data were prospectively collected for fetuses with ascites that have been followed in our center of prenatal diagnosis and therapy from 2004 to 2014. Patients have been divided in group I when ascites was detected before the 24th week of GA and group II if it was noticed later. Prenatal workup included detailed ultrasound, maternal blood group and presence of antibodies, maternal infection screening, fetal karyotyping, and if needed fetal paracentesis. Postnatal data included GA at birth, mode of delivery, weight at birth, neonatal and surgical outcome. Results During the study period, 51 fetuses were included. Among them, 28 in group I and 23 in group II. An associated anomaly was prenatally identified in 84% of the fetuses. Prenatal demise occurred only in patients belonging to group I for an overall incidence of 10%. An associated disease was confirmed after birth in 61% of cases in group I and in 74% in group II (p = ns). There was a higher incidence of gastrointestinal pathology in group II than in group I (47 vs. 10%, p = 0.004); with a significant prevalence of meconium peritonitis (32 vs. 4%, p = 0.016). Nine patients (17.6%) died after birth, all in group I, because of major systemic malformations. Overall, the postnatal outcome was good in 63% (n = 32) of the cases, and more than half of them belonged to group II (p = 0.003). Conclusion A wide range of etiologies have been found to be associated with isolated fetal ascites. A systematic diagnostic workup and multidisciplinary prenatal counseling can improve the accuracy of prenatal identification of associated pathologies. The early detection of fetal ascites, before the 24th week of GA, is associated with a significant risk of perinatal death; otherwise, a late diagnosis of fetal ascites is associated with an increased risk of gastrointestinal diseases, especially with meconium peritonitis.

Vacuum assisted closure for the treatment of complex wounds and enterocutaneous fistulas in full term and premature neonates: a case report.

BACKGROUND: The Vacuum Assisted Closure (VAC) system has become an effective treatment for acute and chronic wound defects. Although its use has been reported in wound care of children and premature infants, the management of the device in this population has not been well established. CASE PRESENTATION: We report the satisfactory results in two neonates (one full-term and one preterm) with complex wounds secondary to major abdominal surgery. In the premature baby an enterocutaneous fistula was also present. Complete epithelialization of the wounds was achieved in both patients within a few weeks thus avoiding any further surgical procedure. CASE PRESENTATION: The use of VAC system in neonates is safe and effective in the management of complex wounds and should be considered as a first line treatment in the event of a major dehiscence.

Megaureter.

Obstructive megaureter is shown by ureteral dilatation most frequently due to an obstacle at the level of ureterovesical junction. The obstacle is caused by a stenotic tract and/or the absence of peristalsis. The diagnosis of primary obstructive megaureter is usually prenatal. The pediatric surgeon together with the pediatric radiologist and nephrologist should pose the indication for surgery. The main criteria on which this approach should be indicated are the grade of megaureter and the renal function. Megaureters of low-mid grade should be followed by a "wait and see" approach because they may resolve spontaneously, while megaureters of high grade should undergo operative repair and ureterovesical reimplantation. Results are good with a low rate of complications (recurrence of stenosis or vesicoureteral reflux).

Ureteral valves.

Ureteral valves together with stenosis and diverticula represent congenital malformations of the ureteral tract between the pyeloureteral junction and the ureterovesical junction. They are rare malformations and even more rarely they cause an obstacle to urine flow. The proximal subjejunal ureteral tract is more frequently involved. The most reliable pathogenetic hypotheses suggest a delay in the canalization of fetal ureter or an ischemic damage. The true ureteral valves should be distinguished from Ostling embryonic folds that can be documented in 5% of newborns and disappear with growth. Treatment, when necessary, consists in the resection of the affected ureteral tract followed by ureteral or pelviureteral end-to-end anastomosis.

Posterior urethral valves.

Posterior urethral valves represent the most common post-vesical obstructive malformation. They affect the male gender and appear as intraluminal folds located immediately proximal to the verumontanum. One of the most credited pathogenetic theories considers them an anomalous insertion of mesonephric duct into the cloaca or an incomplete involution of plicae colliculi. At present, the diagnosis of posterior urethral valves is prenatal and the pattern is characterized by detrusor hypertrophy and more or less marked hydroureteronephrosis. Urinary tract disorders that accompany posterior urethral valves include moderate hydroureteronephrosis to severe functional impairment of the entire urinary tract with consequent renal failure. Treatment of posterior urethral valves consists in their resection. At present, with miniaturized endoscopes, valve fulguration is feasible also in newborn infants. In low-weight patients or in case of poor general condition, temporary external urinary bypass (e.g. cystostomy) is feasible.

Invasive fetal therapies: approach and results in treating fetal ovarian cysts.

OBJECTIVE: To show the validity of prenatal invasive surgical intervention when a fetal ovarian cyst is diagnosed, compared to a wait and see attitude, in order to avoid possible prenatal and postnatal complications. PATIENTS: Fourteen cases of intra-abdominal cysts monitored in our center between April 2005 and November 2010. All cases were first diagnosed in the third trimester, and were monitored for the remainder of the pregnancy and after delivery (2 months-3 years postnatally). SURGICAL INTERVENTION: Upon maternal and fetal cutaneous anesthesia performed trans-amniotically, the cystic fluid (mean contents 43.85 cc, DS 46.27) was extracted for cytological, biochemical, and hormonal examination. RESULTS: Thirteen cases of intra-abdominal cysts (92.8%) were fetal ovarian cysts. Ninety-two percent of pregnancies bearing such a condition were successfully concluded (n = 12). Sixty-nine percent concluded in vaginal delivery (n = 9). None experienced maternal and/or fetal complications. Every drained cyst had an estradiol concentration higher than 10,000 pg/ml. CONCLUSIONS: The aspiration of ovarian cysts exceeding a 40 mm diameter, performed as early as possible, allows a good longitudinal treatment of this fetal affection, thus avoiding torsion, tissue necrosis, and invasive postnatal surgery, as well as giving hope of future gestational capability to the fetus/newborn.

Solitary Peutz-Jeghers Polyp in a Paediatric Patient.

Hamartomatous polyps of Peutz-Jeghers are mostly found in patients affected by Peutz-Jeghers syndrome (PJS), but they can be rarely encountered in the general population. It is unclear whether a solitary Peutz-Jeghers polyp (PJP) is an incomplete form of PJS or a separate entity. We report a case of solitary PJP in a paediatric patient in whom the other features of PJS were absent. The patient underwent laparotomy due to small bowel intussusception secondary to an ileac polyp. Histological examination showed the characteristic features of PJP, but the patient did not fulfill the WHO criteria for PJS diagnosis (negative family history for PJS and absence of mucocutaneous pigmentation); moreover analysis of the STK11/LKB1 gene did not reveal any genomic abnormality. The clinical and investigative findings in our case suggest that the solitary PJP can be considered a different clinical entity from PJS.

Plexiform schwannoma of the esophagus in a child with neurofibromatosis type 2.

Schwannoma is a benign neoplasia of the peripheral nerve sheath. Its localization in the gastrointestinal tract, and in particular in the esophagus, is very rare. According to the existing literature esophageal schwannoma has been reported so far only in adult patients. We report the case of an 11 year old patient with neurofibromatosis, type 2, who underwent surgical excision of a plexiform schwannoma of the esophagus.

Sacrococcygeal teratoma. Outcome and management. An analysis of 17 cases.

AIMS: The authors compare their experience of 17 cases of sacrococcygeal teratoma (SCT) with the literature in an attempt to clarify the natural history of this tumor and to identify factors related to its prognosis and management. METHODS: The obstetrical, neonatal and surgical data were analyzed for 17 cases of SCT observed between July 1985 and December 1998. RESULTS: Three fetuses died in utero or shortly after birth. In the remaining 14, the tumors were removed. Twelve of the infants are currently tumor-free, with good sphincter control and lower-limb function. The remaining two died: one had a malignant tumor, and the other had a recurrence of an embryonal carcinoma. Recurrent tumors (mature histotypes) were also removed from two of the 12 patients who survived. CONCLUSIONS: Benign SCTs generally have favorable prognosis. Negative prognostic factors for SCT include solid tumors, those detected early in pregnancy, malignant histotypes, polyhydramnios, placentomegaly, and fetal hydrops.